Treatment of
Monogenic Diseases

Gene therapy is a promising approach
for both monogenic and complex diseases.

Monogenic Diseases

Monogenic diseases are genetic disorders caused by modifications in a single gene occurring in all cells of the body1

Examples include spinal muscular atrophy and inherited retinal disease2

Complex Diseases

Other diseases have more complex roots, involving multiple genetic abnormalities in conjunction with other factors1

Examples include cancer and heart failure1

Monogenic Diseases: Single Gene Mutation Disease

Alterations within a single gene occurring in all cells of the body are sufficient to cause a monogenic disorder3

The manifestation of the genetic disease depends on the functions associated with the protein processed from the altered gene3

More than 10,000 human genetic diseases are monogenic3


Examples of Monogenic Diseases for Which Gene Therapy Approaches Are Being Studied

Blood Disorders

(i.e. thalassemias, sickle cell2,3)


Pulmonary Disorders

(e.g. cystic fibrosis2,3)


Neurodegenerative Disease

(e.g. Batten disease,2,4
spinal muscular atrophy,5 SOD1 mutations in ALS6)


Neurologic Disorders

(e.g. Rett syndrome7)

  1. Wang D, Gau G. Discov Med 2014;18:151–161.
  2. Ginn SL, et al. J Gene Med 2018;20(5):e3015.
  3. World Health Organization. Genes and human disease. Available at: Accessed January 29, 2019.
  4. Worku D. Intern Med 2017;7:6.
  5. Prior TW. Genet Med >2010;12(3):145–152.
  6. Bosco DA. Nature Education 2015;8(3):4. Available at: Accessed December 6, 2018.
  7. Liyanage VRB, Rastegar M. Neuromolecular Med 2014;16(2):231–264.
  8. NIH. How does gene therapy work? Available at: Accessed January 29, 2019.
  9. Gambello MJ, Li H. J Genet Genomics2018;45(2):61–70.